Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.

Baskar D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Töpf A, Thomas A, Sanka SB, Menon D, Srivastava K, Arunachal G, Nandeesh BN, Lochmüller H, Nalini A.